Activity
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5 actions
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| DDG2P v6.113 | CNOT2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CNOT2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CNOT2 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: CNOT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CNOT2 | Achchuthan Shanmugasundram edited their review of gene: CNOT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT2-related neurodevelopmental disorder with hypotonia are strong, monoallelic_autosomal and loss of function (PMIDs: 21299754, 31145527, 31512373, 36224108). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03500.; Changed publications to: 36224108, 21299754, 31512373, 31145527; Changed phenotypes to: OMIM:618608.0, MONDO:0032832, CNOT2-related neurodevelopmental disorder with hypotonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CNOT2 | Achchuthan Shanmugasundram reviewed gene: CNOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36224108, 31512373, 21299754, 31145527; Phenotypes: CNOT2-related neurodevelopmental disorder with hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | CNOT2 |
Achchuthan Shanmugasundram gene: CNOT2 was added gene: CNOT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT2 were set to 36224108; 31512373; 21299754; 31145527 Phenotypes for gene: CNOT2 were set to CNOT2-related neurodevelopmental disorder with hypotonia Mode of pathogenicity for gene: CNOT2 was set to Other |
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